DEAFNESS, AUTOSOMAL RECESSIVE 86

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB86
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614617
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000365) Hearing impairment 539 / 7739
2
(OMIM) Deafness, profound, affects all frequencies 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ali et al. (2012) reported a consanguineous Pakistani family in which 11 individuals had prelingual onset of profound hearing loss affecting all frequencies. There were no additional features or history of vestibular difficulties, but sophisticated testing of vestibular ...